Jingshan Gao, Takeru Makiyama, Yuta Yamamoto, Takuya Kobayashi, Hisaaki Aoki, Thomas L Maurissen, Yimin Wuriyanghai, Asami Kashiwa, Tomohiko Imamura, Takanori Aizawa, Hai Huang, Hirohiko Kohjitani, Misato Nishikawa, Kazuhisa Chonabayashi, Megumi Fukuyama, Hiromi Manabe, Kouichi Nakau, Tsutomu Wada, Koichi Kato, Futoshi Toyoda, Yoshinori Yoshida, Naomasa Makita, Knut Woltjen, Seiko Ohno, Nagomi Kurebayashi, Takashi Murayama, Takashi Sakurai, Minoru Horie, Takeshi Kimura
BACKGROUND: CaM (calmodulin) is a ubiquitously expressed, multifunctional Ca2+ sensor protein that regulates numerous proteins. Recently, CaM missense variants have been identified in patients with malignant inherited arrhythmias, such as long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). However, the exact mechanism of CaM-related CPVT in human cardiomyocytes remains unclear. In this study, we sought to investigate the arrhythmogenic mechanism of CPVT caused by a novel variant using human induced pluripotent stem cell (iPSC) models and biochemical assays...
March 2023: Circulation. Arrhythmia and Electrophysiology